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rs397508152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAAAC;CAAAC) 0 common in clinvar
Make rs397508152(AAAAA;AAAAA)
Make rs397508152(AAAAA;CAAAC)
ReferenceGRCh38 38.1/142
Chromosome7
Position117540305
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508152
ebirs397508152
HLIrs397508152
Exacrs397508152
Varsomers397508152
Maprs397508152
PheGenIrs397508152
hapmaprs397508152
1000 genomesrs397508152
hgdprs397508152
ensemblrs397508152
gopubmedrs397508152
geneviewrs397508152
scholarrs397508152
googlers397508152
pharmgkbrs397508152
gwascentralrs397508152
openSNPrs397508152
23andMers397508152
23andMe allrs397508152
SNP Nexus

SNPshotrs397508152
SNPdbers397508152
MSV3drs397508152
GWAS Ctlgrs397508152
Max Magnitude0
aka Gln359_Thr360delinsLysLys or c.1075_1079delCAAACinsAAAAA

According to both CFTR2 and ClinVar, this is a change in the CFTR gene of unknown clinical significance

ClinVar
Risk rs397508152(AAAAA;AAAAA)
Alt rs397508152(AAAAA;AAAAA)
Reference rs397508152(CAAAC;CAAAC)
Significance Untested
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180359_117180363delCAAACinsAAAAA
CLNSRC
CLNACC RCV000046220.2,